Canonical Allele Identifier: CA394336549

Gene: PKD1 PKD1-AS1

Linked Data

• dbSNP Id: rs2091646199
• gnomAD v3: 16-2092588-C-G
• gnomAD v4: 16-2092588-C-G
• MyVariant Identifiers: chr16:g.2142589C>G (hg19) ; chr16:g.2092588C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092588C>G , CM000678.2:g.2092588C>G	GRCh38
NC_000016.9:g.2142589C>G , CM000678.1:g.2142589C>G	GRCh37
NC_000016.8:g.2082590C>G	NCBI36
NG_008617.1:g.50633G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11161G>C (PKD1) MANE Select	ENSP00000262304.4:p.Glu3721Gln
ENST00000262304.8:c.11161G>C (PKD1)	ENSP00000262304.4:p.Glu3721Gln
ENST00000423118.5:c.11158G>C (PKD1)	ENSP00000399501.1:p.Glu3720Gln
ENST00000485120.1:n.10G>C (PKD1)
ENST00000487932.5:c.5723G>C (PKD1)	ENSP00000457132.1:n.5723G>C
ENST00000562425.1:c.274G>C (PKD1)
ENST00000567355.1:n.324G>C (PKD1)
NM_000296.3:c.11158G>C (PKD1)	NP_000287.3:p.Glu3720Gln
NM_001009944.2:c.11161G>C (PKD1)	NP_001009944.2:p.Glu3721Gln
XM_005255370.2:c.8116G>C (PKD1)	XP_005255427.1:p.Glu2706Gln
XM_011522525.1:c.11239G>C (PKD1)	XP_011520827.1:p.Glu3747Gln
XM_011522526.1:c.11236G>C (PKD1)	XP_011520828.1:p.Glu3746Gln
XM_011522527.1:c.11221G>C (PKD1)	XP_011520829.1:p.Glu3741Gln
XM_011522528.1:c.11215G>C (PKD1)	XP_011520830.1:p.Glu3739Gln
XM_011522529.1:c.11212G>C (PKD1)	XP_011520831.1:p.Glu3738Gln
XM_011522530.1:c.11185G>C (PKD1)	XP_011520832.1:p.Glu3729Gln
XM_011522531.1:c.11167G>C (PKD1)	XP_011520833.1:p.Glu3723Gln
XM_011522532.1:c.11113G>C (PKD1)	XP_011520834.1:p.Glu3705Gln
XM_011522533.1:c.11032G>C (PKD1)	XP_011520835.1:p.Glu3678Gln
XM_011522534.1:c.10975G>C (PKD1)	XP_011520836.1:p.Glu3659Gln
XM_011522535.1:c.9061G>C (PKD1)	XP_011520837.1:p.Glu3021Gln
XM_011522537.1:c.8239G>C (PKD1)	XP_011520839.1:p.Glu2747Gln
XR_932867.1:n.11254G>C (PKD1)
XR_932868.1:n.11110-400G>C (PKD1)
XR_932869.1:n.11110-400G>C (PKD1)
XR_932870.1:n.11114G>C (PKD1)
XR_933000.1:n.90-301C>G (PKD1-AS1)
XR_933001.1:n.180-301C>G (PKD1-AS1)
XR_933002.1:n.89-301C>G (PKD1-AS1)
XR_933003.1:n.89-301C>G (PKD1-AS1)
NR_135175.1:n.180-301C>G (PKD1-AS1)
XM_005255370.3:c.8116G>C (PKD1)	XP_005255427.1:p.Glu2706Gln
XM_011522528.3:c.11215G>C (PKD1)	XP_011520830.1:p.Glu3739Gln
XM_011522529.2:c.11212G>C (PKD1)	XP_011520831.1:p.Glu3738Gln
XM_011522537.2:c.8239G>C (PKD1)	XP_011520839.1:p.Glu2747Gln
XM_024450298.1:c.11281G>C (PKD1)	XP_024306066.1:p.Glu3761Gln
XM_024450299.1:c.11209G>C (PKD1)	XP_024306067.1:p.Glu3737Gln
XM_024450300.1:c.11071G>C (PKD1)	XP_024306068.1:p.Glu3691Gln
XM_024450301.1:c.9157G>C (PKD1)	XP_024306069.1:p.Glu3053Gln
NM_000296.4:c.11158G>C (PKD1)	NP_000287.4:p.Glu3720Gln
NM_001009944.3:c.11161G>C (PKD1) MANE Select	NP_001009944.3:p.Glu3721Gln